Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient –Parent Trio Sample

To date, there has been no systematic analysis for the clinical laboratory in detecting technically challenging variants using the trio-based exome sequencing (ES) approach. Here, we present an interlaboratory pilot proficiency testing study that used synthetic patient –parent specimens to assess the detection of challenging variants with de novo dominant inheritance modes for neurodevelopmental disorders using various trio-based ES. In total, 27 clinical laboratories that performed diagnostic exome analyses participated in the survey.

Source: Journal of Molecular Diagnostics - May 17, 2023 Category: Pathology Authors: Kuo Zhang, Guigao Lin, Yanxi Han, Rongxue Peng, Jinming Li Tags: Regular articles Source Type: research